Congenital anomelies

1. GOVERNMENTAYURVEDCOLLEGE
NAGPUR
DEPARTMENT OF BALROG
CONGENITAL ANOMALIES
IN CHILDRENS
Presented By
Prashant Nagre
Komal Mishra
Guided by
Vd.Nikam Mam
Vd.Shriwas Mam

2.  A congenital anomaly is a structural abnormality of any
type that is present at birth.
 Congenital anomalies may be induced by genetic or
environmental factors. Most common congenital
anomalies, however, show the family patterns expected of
multifactorial inheritance (determined by a combination
of genetic and environmental factors).
 About 3% of all liveborn infants have an obvious major
anomaly.
 The incidence is about 6% in 2-year-olds and 8% in 5-
year-olds.
 Congenital anomalies may be single or multiple and of
minor or major clinical significance.

3.  During the first 2 weeks of development, teratogenic agents
usually kill the embryo or have no effect.
 During the organogenesis period (3rd – 8th weeks),
teratogenic agents disrupt development and may cause major
congenital anomalies.
 During the fetal period (9th week – 9th month) teratogens may
produce morphological and functional abnormalities,
particularly of the brain and eyes.

4. Causes of congenital
anomalies;
1-Genetic factors such as chromosomal abnormalities
and mutant genes.
2-Environmental factors e.g.: the mother had German
measles in early pregnancy will cause abnormality in
the embryo.
3-Combined genetic and environmental factors
(mutlifactorials factors).

5. Types of abnormalities
Malformations: this occurs during the formation of the
structures of the organ (during organogenesis) results in
partial or complete non formation or alterations in the normal
structure. This occurs in the 3rd to the 8th week of gestation.
Ex. Cleft lip and or cleft palate.
Disruptions: results in morphological change of the already
formed structure due to exposure to destructive process. e.g.:
vascular accidents leading to intestinal atresia, amniotic band
disruption.
Deformations: due to mechanical forces that affect a part of
the fetus over a long period. Ex: talipes equinovarus
deformity.
Syndrome: is a group of anomalies occurring together due to
a common cause .

6.  The genetic factors leading to congenital anomalies may be
due to chromosomal abnormalities, gene mutations or may be
multifactorial..
 Chromosomal abnormalities occur due to:
- late maternal age at the time of pregnancy
(leads to chromosomal non-disjunction),
- radiation (causes chromosome deletions,translocations or
breaks),
- viruses as German measles,
- autoimmune diseases,
- and some chemical agents as anti-biotic drugs.

7. Syndrome examples
• CHARGE
– Colobomas
– Heart defects
– Atresia of the choanae
– Retarded growth
– Genital anomolies
– Ear anomalies
• VACTERL
– Verterbral anomalies (A)
– Anal A
– Cardiac A
– Tracheoesophageal A
– Renal A
– Limb A

8. Environmental factors
• Infectious agents
• Radiation
• Chemical Agents
• Hormones
• Maternal Disease
• Nutritional Deficiencies
• Hypoxia

9. Infectious Agents
• Rubella (German Measles)
– Malformations of the eye
• Cataract (6th week)
• Microphthalmia
– Malformations of the ear (9th week)
• Congenital deafness
– Due to destruction of cochlea
– Malformations of the heart (5th -10th week)
• Patent ductus arteriosis
• Atrial septal defects
• Ventricular septal defects

10. Infectious Agents (cont.)
• Rubella (German measles)
– May be responsible for some brain abnormalities
• Mental retardation
– Intrauterine growth retardation
– Myocardial damage
– Vascular abnormalites
– Incidence
• 47%- during 1st four weeks
• 22% - 5th – 8th weeks
• 13% - 9th – 16th week

11. Infectious Agents (cont.)
• Cytomegalovirus
– Disease is often fatal early on
– Malformations
• Microcephaly
– Cerebral calcifications
– Blindness
• Chorioretinitis
– Kernicterus (a form of jaundice)
– multiple petechiae of skin
– Hepatosplenomegaly

12. Infectious Agents (cont.)
• Herpes Simplex Virus
– Intrauterine infection of fetus occasionally occurs
– Usually infection is transmitted close to time of delivery
– Abnormalities (rare)
• Microcephaly
• Microphthalmos
• Retinal dysplasia
• Hepatosplenomegaly
• Mental retardation
– Usually child infected by mother at birth
• Inflammatory reactions during first few weeks

13. Infectious Agents (cont.)
• Varicella (chickenpox)
– Congenital anomalies
• 20% incidence following infection in 1st trimester
• Limb hypoplasia
• Mental retardation
• Muscle atrophy
• HIV/AIDS
– Microcephaly
– Growth retardation
– Abnormal facies (expression or appearance of the face)

14. Infectious Agents (cont.)
• Toxoplamosis
– Protozoa parasite (Toxoplama gondii)
• Sources
– Poorly cooked meat
– Domestic animals (cats)
– Contaminated soil with feces
• Syphilis
– Congenital deafness
– Mental retardation
– Diffuse fibrosis of organs (eg. liver & lungs)
• In general most infections are pyrogenic
– Hyperthemia can be teratogenic
• Fever

15. Radiation
• Teratogenic effect of ionizing radiation well established
– Microcephaly
– Skull defects
– Spina bifida
– Blindness
– cleft palate
– Extremity defects
• Direct effects on fetus or indirect effects on germ cells
• May effect succeeding generations
• Avoid X-raying pregnant women

16. Chemical agents/Drugs
• Role of chemical agents & drugs in production of anomalies is
difficult to assess
– Most studies are retrospective
• Relying on mother’s memory
– Large # of pharmaceutical drugs used by pregnant women
• NIH study – 900 drugs taken by pregnant women
– Average of 4/woman during pregnancy
– Only 20% of women use no drugs during pregnancy
– Very few drugs have been positively identified as being
teratogenic

17. Drugs
• Thalidomide
– Antinauseant & sleeping pill
– Found to cause amelia & meromelia
• Total or partial absence of the extremities
– Intestinal atresia
– Cardiac abnormalities
– Many women had taken thalidomide early in pregnancy (in
Germany in 1961)

18. Drugs (cont.)
• Aminoteptrin
– Antagonist of Folic Acid
– Antineoplastic agent which inhibits mitosis
– Defects
• Anencephaly
• Meningocele
• Hydrocephalus
• Cleft lip & palate

19. Drugs (cont.)
• Anticonvulsants (to treat epilepsy)
– Diphenylhydantoin (phenytoin)
• Craniofacial defects
• Nail & digital hypoplasia
• Growth abnormalities
• Mental deficiency
• The above pattern is know as “fetal hydantoin
syndrome”
– Valproic acid
• Neural tube defects
• Heart defects
• Craniofacial & limb anomalies

20. Drugs (cont.)
• Antipsychotic drugs (major tranquilizers)
– Phenothiazine & lithium
• Suspected teratogenic agents
• Antianxiety drugs (minor tranquilizers)
– Meprobamate, chlordiazepoxide,
• Severe anomalies in 11-12% of offspring where
mothers were treated with the above compared to 2.6%
of controls
– diazepam (valium)
• Fourfold  in cleft lip with or without cleft palate

21. Drugs (cont.)
• Anticoagulants
– Warfarin (A.K.A cumadin or cumarol)
• Teratogenic
• Hypoplasia of nasal cartilage
• Chondrodysplasia
• Central nervous system defects
– Mental retardation
– Atrophy of the optic nerves
• Antihypertensive agents
– angiotensin converting enzyme (ACE) inhibitor
• Growth dysfunction, renal dysfunction, oliogohydramnios,
fetal death

22. Drugs (cont)
• Propylthiouracil
– Goiter
– Mental retardation
• Potassium iodide
– Goiter
– Mental retardation
• Streptomycin
– deafness
• Sulfonamides
– kernicterus
• Imipramine (antidepr.)
– Limb deformaties
• Tetracyclines
– Bone & tooth anomalies
• Amphetamines
– Oral clefts
– CV abnormalities
• Quinine
– Deafness
• Aspirin
– Potentially harmful in large
doses

23. Alcohol
• Relationship between alcohol consumption & congenital
abnormalities
• Fetal alcohol syndrome
– Craniofacial abnormalities
• Short palpebral fissures
• Hypoplasia of the maxilla
– Limb deformities
• Altered joint mobility & position
– Cardiovascular defects
• Ventricular septal abnormalites
– Mental retardation
– Growth deficiency

24. Cigarette Smoking
• Has not been linked to major birth defects
– Smoking does contribute to intrauterine growth retardation
& premature delivery
– Some evidence that is causes behavioral disturbances

25. Hormones
• Androgenic Agents
– Synthetic progestins were used frequently to prevent
abortion
• Ethisterone & norethisterone
– Have considerable androgenic activity
» Masculinization of female genitalia
• Diethylstilbesterol
– Commonly used in the 1940’s & 1950’s to prevent
abortion; in 1971 determined that DES caused
increased incidence of vaginal & cervical cancer in
women who had been exposed to DES in utero
– In addition high % suffered from reproductive
dysfunction
• Oral Contraceptives
– Low teratogenic potential, discontinue if pregnancy
suspected
• Cortisone-cleft palate in mice (not humans)

26. Digestive system anom.)Cleft
lip/palate
• Incidence: about 1 in 600 live births
• Cleft lip with or without cleft palate
• Syndromic: associated with another syndrome. Syndromic
cleft lip/palate is more common in males
• Nonsyndromic: isolated finding, not associated with any
particular syndrome. Non syndromic tends to be equal
between males and females.
• Consider submucous cleft palate with bifid uvula

27. Cleft lip/palate

28. Tongue Tie
(Ankylogossia)

29. Gastroschisis

30. Omphalocele

31. Esophagial
fistula,Hirschsprungs dis,

32. imperforated anus,intestinal
atresia

33. Nervous system
Ancephalous

34. Spina bifida

35. HYDROCEPHALUS&MICROCEP
HALUS

36. EYE
Anopthalmos&blue sclera,cloboma

37. congenital catracrt ,cystic eye
ball,dermoid,micropthalmia

38. EAR
Accessary
auricle,micro&macrotia,Periauricular
sinus

39. CVS Anomelies
• Tetralogy of fallot
• VSD
• ASD
• Stenosis of arotic
valve

40. Respiratory anomelies
Tracheoesophageal fistula&cyst of
lung

41. Renal anomelies
Polycystic kidney ,Horshoe kidney
,Renal dysplasias

42. Bladder exstrophy

43. Genital system
Bicornuate
Uterus&hypo&epispadia

44. Ambiguous genitalia

45. Congenital hydrocele &hernia

46. Limbs anomelies
Polydactyl,syndactyly,ectrodactyly

47. Phocomelia
syndrome,meromalia

48. Club Foot

49. Twin-Twin Transfusion
Syndrome

50. Ambras syndrome

51. Craniopagus parasiticus

52. Fibrodysplasia ossificans
progressiva

53. Progeria

54. Cystic hygroma

55. Sacrococcygeal
teratoma

56. Hemangioma

57. Prevention of birth defects
• Good prenatal care
• Iodine supplementation eliminates mental retardation & bone
deformities
– Prevent cretinism
• Folate/Folic Acid supplementation
–  incidence of neural tube defects
• Avoidance of alcohol & other drugs during all stages of
pregnancy
–  incidence of birth defects

58. सहज व्याधि
• प्रागभिहहत तददुख संयोगा व्यािय इतत ।
• तच्च दुख त्रिविधिम -
• अध्यात्ममकम,आधििौततकम,आधिदैविकम इतत
॥(सु.सु२४/३)

59. अध्यात्मिक
१]आहदबलप्रिृत - मातृजा
- वितृजा
२]जन्मबलप्रिृत -रसकृ त
-दौहदौिचार
३]दोषबलप्रिृत- आशय-आमशय
-प्क्िाशय
आश्रय-शाररर
-मानस

60. आधिभौतिकि
१]शस्त्िकृ त
२]व्यल्कृ त

61. आधिदैविकि
१]कालबल - व्यापन्न
-अव्यापन्न
२] दैिबल
३] स्िभािबल - कालकृ ि
- अकालकृ ि